Genetic Analysis Of Trophoblastic Diseases

Part One Molecular Genetic Analyses of Hydatidiform MolesBACKGROUND AND OBJECTIVESHydatidiform moles (HMs) are the most common form of gestational trophoblastic diseases (GTD). According to their clinical-histopathology characteristics, two different types of entity were classified: partial hydatidiform moles (PHMs) and complete hydatidiform moles (CHMs). Recently, biparental hydatidiform mole (BiCHM), a third type of HM which is often associated with familial recurrent hydatidiform mole (FRHM), has been reported. FRHM is considered as a rare autosomal recessive inherited disease and a gene for this condition has been previously mapped to a 1.1Mb region of chromosome 19q13.4. Investigation of further families is helpful to refine the location of the specific gene(s) involved and to identify the specific gene(s).The objectives of this study include: 1.To identify the genetic origin of hydatidiform moles by microsatellite polymorphism analysis on HMs and their parents. 2. To investigate the possible pathogenesis of BiCHM by detecting the expression of p57KIP2 protein, the product of a maternally transcribed imprinting gene (CDNK1C). 3. To refine the candidate region underlying the condition by genotyping the individuals from FRHM families with markers located within the 19q13.4 region.METHODS AND RESULTSThe study included the following three parts: 1 The Genetic Origion of Hydatidiform MolesTwo FRHM families and six sporadic molar pregnancies from other independent families were enrolled into the study. In these eight moles, one was pathologically diagnosed as partial hydatidiform mole (PHM), the others were complete hydatidiform moles (CHMs). Blood samples and formalin-fixed paraffin-embedded blocks of molar tissue or fresh molar tissue were available from the HMs and their...